Pseudovaginal perineoscrotal hypospadias

46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

Pseudovaginal perineoscrotal hypospadias is inherited in an autosomal recessive manner

Pseudovaginal perineoscrotal hypospadias (PPSH) refers to a configuration of the external genitalia of an infant. In a sense, this configuration is roughly midway between phenotypical human male genitalia, and phenotypical human female genitalia, in structure and appearance. It is a relatively common form of genital ambiguity caused by undervirilization of genetic males due to several different intersex conditions.

Until recently, nonconsentual mutilation of children's genitals is often undertaken to normalize their appearance in accordance with a binary model of anatomical sex. Parents often request and authorize the reconstructive surgery with the hope of sparing their child the shame and embarrassment which is often associated with being visibly "different" than the child's peers in situations such as school locker rooms etc.. The practice is being met with increasing resistance from the medical community, since an actual medical need for such interventions is often not given. Furthermore, social advocates are working to increase awareness, understanding and acceptance of non-binary sexual anatomy, which is reducing the potential for stigma and shame for people born with intersex or indeterminate anatomy.